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. 2000 Apr;37(4):287–291. doi: 10.1136/jmg.37.4.287

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

B Eussen 1, G Bartalini 1, L Bakker 1, P Balestri 1, L Di 1, J O Van Hemel 1, H Dauwerse 1, A M W van den Ouweland 1, C Ris-Stalpers 1, S Verhoef 1, D Halley 1, A Fois 1
PMCID: PMC1734565  PMID: 10745047

Abstract

We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had α thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt.
  The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.


Keywords: PKD1; TSC2; HI; partial trisomy/monosomy

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Selected References

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